Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia.

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder associated with expanded CAG repeat size in the huntingtin gene and usually presenting with movement disorder, psychiatric symptoms, and cognitive decline. Sleep problems, weight loss, and cachexia are also common. Here, we report a patient presenting with hypothermia in late-stage HD. Although thermoregulatory defects were documented in animal models, this is the first report describing HD with hypothermia in humans.

Point-of-care lung ultrasound in children with non-cardiac respiratory distress or tachypnea.

OBJECTIVE: The purpose of this study was to evaluate the feasibility and diagnostic benefit of point-of-care ultrasound (PoCLUS) in children with non-cardiac respiratory distress or tachypnea. METHODS: In this prospective observational study, children aged between 1 month and 18 years with respiratory distress, tachypnea, or both, at triage were included. Concordance and accuracy of the emergency department (ED) and ultrasound diagnoses, length of stay, and time elapsing until ED and ultrasound diagnoses were calculated. RESULTS: One hundred forty-five patients were evaluated. The mean age of the children in the study was 67 ±â€¯58 months. Seventy-nine patients (56%) were boys. Mean length of stay in the ED was 124.6 ±â€¯76.5 min. Mean time to ultrasound diagnosis was 29.32 ±â€¯15.71 min, compared to 46.75 ±â€¯32.65 min for ED diagnosis, which was significantly longer (p < 0.001). Concordance between ultrasound and ED diagnoses was almost perfect for pneumonia, acute bronchiolitis, asthma and croup (0.8 < Ƙ < 1), and good for other non-pulmonary causes (0.6 < Ƙ < 0.8). Overall concordance for all diagnoses was also good (Ƙ = 0.76). Ultrasound diagnosis was more sensitive than ED diagnosis for pneumonia, acute bronchiolitis, and other non-pulmonary causes (81.4%-74.42%; 97.3%-86.49%; and 100%-95.83%, respectively). In addition, ultrasound diagnosis was more specific than ED diagnosis for pneumonia, acute bronchiolitis and other non-pulmonary causes (100%-97.35%; 99.07%-98.15%; and 93.39%-88.43%, respectively). However, ultrasound and ED diagnoses exhibited similar sensitivity and specificity values for asthma (97.22%-97.22%; and 99.08%-100%). CONCLUSION: PoCLUS may constitute a beneficial and rational approach in the evaluation of children with increased work of breathing in the ED, and can also expedite the diagnostic process.

Endoplasmic reticulum stress markers are of no value in predicting cardiopulmonary resuscitation success and survival in out-of hospital cardiac arrest: A nested case-control study.

OBJECTIVES: The purpose of this study was to determine the value of the endoplasmic reticulum (ER) stress markers glucose-regulated protein 78 (GRP78), C/EBP homologous protein (CHOP) and PERK in predicting the success of cardiopulmonary resuscitation (CPR) or post-CPR survival. MATERIALS AND METHODS: Non-traumatic out-of-hospital CA patients were included in this prospective, nested case-control study. Standard CPR and post-resuscitative care were applied. Levels of ER stress markers were measured at presentation and were investigated to determine whether they might constitute a marker predicting return of spontaneous circulation (ROSC) or sustained ROSC, and of 24-h, and 1 and 3-month survival. RESULTS: Fifty-two out of 99 non-traumatic CA patients were enrolled. ROSC was determined at a level of 25%, sustained ROSC at 23%, 24-h survival at 7%, and 1- and 3-month survival at 4.6%. No difference was determined in terms of ER stress markers between patients with and without ROSC or sustained ROSC. Only PERK levels were higher in surviving patients than non-surviving subjects in terms of 24-h survival (p = 0.01). Otherwise, no stress markers differed between surviving and non-surviving patients at any survival time point. CONCLUSION: ER stress markers are of no value in determining establishment of ROSC or sustained ROSC, success of CPR, or survival. Only PERK levels may be valuable in terms of 24-h survival.

Comparison of the diagnostic values of vascular adhesion protein-1 and intestinal fatty acid-binding protein in the diagnosis of acute mesenteric ischemia.

OBJECTIVES: The aim of this study is to compare the diagnostic values of plasma levels of vascular adhesion protein-1 (VAP-1) and intestinal fatty acid-binding protein (I-FABP) for diagnosing acute mesenteric ischemia (AMI). METHODS: The study used a randomized, controlled experimental design. Forty-two female Sprague-Dawley rats were divided into three control groups and three ischemia groups. Plasma VAP-1 and I-FABP levels were measured, and the extent of ischemic damage was determined using a histopathological damage score in terminal ileum tissue samples. RESULTS: In the early phase of AMI (i.e. at the 30-min time point), VAP-1 levels did not differ between the control and ischemia groups (p > 0.05), but I-FABP levels were significantly higher in the ischaemia groups (p = 0.017). Although both VAP-1 and I-FABP levels increased in the ischaemia groups, only VAP-1 levels showed a significant increase compared to the control group at the 2-h time point (p = 0.011). Ischemic damages associated with AMI became the most prominent at the 6-h time point. During this phase, both VAP-1 and I-FABP levels were significantly higher in the ischemia groups than in the control groups (p = 0.007 and p = 0.002, respectively). Both VAP-1 and I-FABP levels showed a significant correlation with ischemic changes, but a higher correlation was observed for VAP-1 levels (r = 0.771). CONCLUSIONS: Both I-FABP and VAP-1 levels were useful for diagnosing AMI, but VAP-1 levels correlated better with the extent of ischaemic damage.

The value of endoplasmic reticulum stress markers (GRP78 and CHOP) in the diagnosis of acute mesenteric ischemia.

AIM: To evaluate levels of the endoplasmic reticulum (ER) stress markers GRP78 and CHOP in acute mesenteric ischemia (AMI) and to examine relations with degrees of AMI-related intestinal injury. MATERIALS AND METHODS: Twenty-four rats were divided into four groups. Group I and Group III represented the control groups, from which blood and tissue specimens were collected 2 and 6 h after laparotomy without superior mesenteric artery (SMA) ligation. Group II and Group IV constituted the ischemia groups, from which blood and tissue specimens were collected 2 and 6 h after SMA ligation. The ER stress markers GRP78 and CHOP, total oxidant status (TOS), total antioxidant status (TAS), and the oxidative stress index (OSI) were investigated in each group. Ileum specimens were assessed in terms of ischemic injury, and appropriate comparisons were performed. RESULTS: Significantly higher GRP78, CHOP, TOS, and TAS values were determined in the ischemia groups (groups II and IV) compared to the control groups (groups I and III). This elevation was greater in the 6 h ischemia group, the group exposed to the greatest ischemic injury (Group IV). Significant and powerful correlation was present between histopathological damage and levels of the ER stress markers and oxidative markers. CONCLUSION: According to our results, ER stress markers (GRP78 and CHOP) increase significantly following ischemic injury. This elevation has the potential to be used diagnostically and also in prognostic terms due to the powerful correlation it exhibits with AMI-related ischemic injury.

Can water lacerate a tendon? A car-wash accident: A lacerated extensor hallucis longus tendon.

Our purpose in this report, involving an unusual mechanism described for the first time in the literature, is to show that high-pressure water sprays used for washing cars can cause injury to the extensor hallucis longus (EHL). A 21-year-old man presented to our emergency department (ED) due to looseness in the hallux. His history revealed that while operating a pressurized water spray machine for car-washing one week before, he had inadvertently sprayed his foot, and despite wearing protective plastic boots this had resulted in a laceration at the level of the hallux, which had been sutured in a state hospital. Cleaning equipment using pressurized water can be dangerous if sufficient safety measures are not taken. We think that such occupational accidents with serious outcomes can be prevented through simple protective measures.

Acute effects of the electromagnetic waves emitted by mobile phones on attention in emergency physicians.

STUDY OBJECTIVE: The purpose of this study was to investigate the acute effects of the electromagnetic waves (EMW) emitted by mobile phones on attention in emergency physicians. METHODS: This single-center, prospective, randomized, double-blinded clinical study was performed among emergency physicians in a tertiary hospital. Thirty emergency physicians were enrolled in the study. Initial d2 test was applied in the evaluation of attention and concentration of all the physicians, who were randomly assigned into one of two groups. The control group members hold mobile phones in 'off' mode to their left ears for 15min. The members of the intervention group hold mobile phones in 'on' mode to their left ears for 15min, thus exposing them to 900-1800MHz EMW. The d2 test was re-applied to both groups after this procedure. Differences in attention and concentration levels between the groups were compared. RESULTS: Difference between initial and final d2 test in total performance (TN-E, p=0.319), in total number of figures marked (TN, p=0.177), in test performance percentile (PR, p=0.619) and in attention fluctuation (FR, p=0.083) were similar between the groups. However, difference in the number of figures missed (E1 selective attention, p=0.025), difference between numbers of incorrectly marked figures (E2, p=0,018) and difference in focus levels (E, p=0.016) were significantly in favor of the intervention group. CONCLUSION: According to our study findings, the EMW emitted by mobile phones has no deleterious effect on the attention and concentration levels of emergency physicians, and even has a positive impact on selective attention levels.